MRPS21

mitochondrial ribosomal protein S21

Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]

Known Variants10 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75125521:150,265,704T/Cupstream gene variant
rs7818059041:150,266,847A/Glikely benign
rs112053571:150,267,798T/G
rs5431791:150,274,610G/Aintron variant
rs124037951:150,278,389C/Tintron variant
rs75425101:150,278,823C/Tintron variant
rs7818178241:150,280,568A/Guncertain significance
rs7825543141:150,280,579C/Tuncertain significance
rs3718544571:150,280,580G/Auncertain significance
rs7822259271:150,280,607G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.